TSES
MCID: GNT033
MIFTS: 31

Genetic Prion Diseases (TSES) malady

Genetic diseases (common) category

Summaries for Genetic Prion Diseases

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20GeneReviews, 34MalaCards
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MalaCards: Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to prion disease and creutzfeldt-jakob disease. An important gene associated with Genetic Prion Diseases is PRNP (prion protein). The compounds formate and guanidine have been mentioned in the context of this disorder. Related mouse phenotypes are other and muscle.

GeneReviews summary for prion

Aliases & Classifications for Genetic Prion Diseases

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20GeneReviews, 21GeneTests, 23GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

genetic prion diseases 20 21 23
transmissible spongiform encephalopathies 20
tses 20


Related Diseases for Genetic Prion Diseases

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to genetic prion diseases

Symptoms for Genetic Prion Diseases

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Drugs & Therapeutics for Genetic Prion Diseases

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Genetic Prion Diseases

Drug clinical trials:

Search ClinicalTrials for Genetic Prion Diseases

Search NIH Clinical Center for Genetic Prion Diseases

Search CenterWatch for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

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21GeneTests, 23GTR
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Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases21 23 PRNP

Anatomical Context for Genetic Prion Diseases

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Animal Models for Genetic Prion Diseases or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Genetic Prion Diseases:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.4PRNP, APOE
2MP:00053698.7PRNP, APOE, HLA-DQB1
3MP:00053898.6PRNP, APOE, HLA-DQB1
4MP:00053978.5HLA-DQB1, APOE, PRNP
5MP:00053848.5PRNP, APOE, HLA-DQB1
6MP:00053868.4PRNP, APOE, HLA-DQB1
7MP:00053878.2HLA-DQB1, APOE, PRNP

Publications for Genetic Prion Diseases

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53PubMed
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Articles related to Genetic Prion Diseases:

(show all 12)
idTitleAuthorsYear
1
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. (23922744)
2013
2
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. (23808898)
2013
3
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. (23555862)
2013
4
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. (22198568)
2012
5
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. (22874564)
2012
6
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. (21232818)
2011
7
Genetic prion disease-associated myelodysplasia and SIADH in siblings. (22097952)
2011
8
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. (21293298)
2011
9
ApoE distribution and family history in genetic prion diseases in Germany. (18157657)
2008
10
Genetic prion disease: the EUROCJD experience. (16187142)
2005
11
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. (10617204)
1999
12
Genetic Prion Diseases (20301407)
1993

Variations for Genetic Prion Diseases

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Genetic Prion Diseases:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP): c.305C> T (p.Pro102Leu)single nucleotide variantPathogenicrs74315401GRCh37Chr 20, 4680171: 4680171
2PRNPNM_000311.3(PRNP): c.350C> T (p.Ala117Val)single nucleotide variantPathogenicrs74315402GRCh37Chr 20, 4680216: 4680216
3PRNPNM_000311.3(PRNP): c.598G> A (p.Glu200Lys)single nucleotide variantPathogenicrs28933385GRCh37Chr 20, 4680464: 4680464
4PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398
5PRNPNM_000311.3(PRNP): c.593T> C (p.Phe198Ser)single nucleotide variantPathogenicrs74315405GRCh37Chr 20, 4680459: 4680459
6PRNPNM_000311.3(PRNP): c.650A> G (p.Gln217Arg)single nucleotide variantPathogenicrs74315406GRCh37Chr 20, 4680516: 4680516
7PRNPNM_000311.3(PRNP): c.628G> A (p.Val210Ile)single nucleotide variantPathogenicrs74315407GRCh37Chr 20, 4680494: 4680494
8PRNPNM_000311.3(PRNP): c.314C> T (p.Pro105Leu)single nucleotide variantPathogenicrs11538758GRCh37Chr 20, 4680180: 4680180
9PRNPNM_000311.3(PRNP): c.538G> A (p.Val180Ile)single nucleotide variantPathogenicrs74315408GRCh37Chr 20, 4680404: 4680404
10PRNPNM_000311.3(PRNP): c.695T> G (p.Met232Arg)single nucleotide variantPathogenic, Uncertain significancers74315409GRCh37Chr 20, 4680561: 4680561
11PRNPNM_000311.3(PRNP): c.547A> G (p.Thr183Ala)single nucleotide variantPathogenicrs74315411GRCh37Chr 20, 4680413: 4680413
12PRNPNM_000311.3(PRNP): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs74315412GRCh37Chr 20, 4680489: 4680489
13PRNPNM_000311.3(PRNP): c.560A> G (p.His187Arg)single nucleotide variantPathogenicrs74315413GRCh37Chr 20, 4680426: 4680426
14PRNPNM_000311.3(PRNP): c.313C> A (p.Pro105Thr)single nucleotide variantPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
15PRNPNM_000311.3(PRNP): c.313C> T (p.Pro105Ser)single nucleotide variantPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
16PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398

Expression for genes affiliated with Genetic Prion Diseases

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Genetic Prion Diseases

Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for genes affiliated with Genetic Prion Diseases

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Compounds for genes affiliated with Genetic Prion Diseases

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Sources:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Genetic Prion Diseases according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1formate469.5PRNP, APOE
2guanidine46 25 1211.5APOE, PRNP
3guanidine hydrochloride469.4APOE, PRNP
4sodium dodecylsulfate469.4PRNP, APOE
5valine469.3PRNP, APOE
6glutamine469.1APOE, HLA-DQB1
7paraffin469.0PRNP, APOE
8histidine468.9HLA-DQB1, PRNP
9aspartate468.7PRNP, APOE, HLA-DQB1
10glutamate468.7PRNP, APOE, HLA-DQB1

GO Terms for genes affiliated with Genetic Prion Diseases

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Products for genes affiliated with Genetic Prion Diseases

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Genetic Prion Diseases

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet